Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: No evidence for an association of the mutant allele with obesity or underweight in children,adolescents and young adults |
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| Institution: | 1. Center for Psychobiological and Psychosomatic Research, University of Trier Germany;2. Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany;3. Institute of Medical Biometry, University of Marburg Germany;4. Institute of Human Genetics, University of Marburg Germany;5. Children''s Hospital Hochried, Murnau Germany;1. Department of Medicine, Intermountain Medical Center, 5121 South Cottonwood Street, Building 2, Suite 307, Murray, UT 84107, USA;2. Pulmonary Division, University of Utah, 24 North 1900 East, Wintrobe Building, Room 701, Salt Lake City, UT 84132, USA;1. Evolutionary Genomics Group, Department of Botany and Zoology, Stellenbosch University, Matieland, South Africa;2. United States National Tick Collection, The James H. Oliver, Jr. Institute for Coastal Plain Science, Georgia Southern University, Statesboro, GA, United States;3. Department of Conservation Ecology and Entomology, Stellenbosch University, Matieland, South Africa;4. Department of Veterinary Tropical Diseases, Faculty of Veterinary Science, University of Pretoria, Onderstepoort, South Africa;5. Department of Zoology and Entomology, University of Pretoria, Hatfield, Pretoria, South Africa;6. Department of Zoology, King Saud University, Riyadh, Saudi Arabia;7. Department of Biological Sciences, University of Southern Mississippi, Hattiesburg, MS, United States;8. Iraq Natural History Research Centre and Museum, University of Baghdad, Bab Al-Muadham, Baghdad, Iraq;9. Parasitology Unit, Department of Microbiology and Molecular Genetics, The Kuvin Centre for the Study of Infectious and Tropical Diseases, The Hebrew University-Hadassah Medical School, Jerusalem, Israel;10. Department of Zoology, University of Peradeniya, Peradeniya, Sri Lanka;11. Centro de Estudos de Vectores e Doenças Infecciosas Doutor Francisco Cambournac, Instituto Nacional de Saúde Doutor Ricardo Jorge, Aguas de Moura, Portugal;1. Delray Medical Center, Delray Beach, Florida;2. Delray Medical Center, Broward Health Medical Center, Florida Atlantic University, Boca Raton, Florida;3. C.E.S. College of Medicine, Department of Surgery, Florida Atlantic University, Miami, Florida;4. H.W. College of Medicine, Department of Surgery, Florida International University, Miami, Florida;1. Department of Biotechnology, Lund University, Naturvetarvägen 14, SE-223 62 Lund, Sweden;2. Nova Skantek Environmental Technology (Beijing) Co., Ltd, Beijing 100027, China;1. Center for Polymer Studies and Department of Physics, Boston University, Boston, USA;2. Facultad de Ciencias Económicas y Sociales, Universidad Central de Venezuela, Caracas, Venezuela;3. U.S. Department of the Treasury, Office of Financial Research, USA;4. Department of Physics, Bar-Ilan University, Ramat-Gan, Israel |
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| Abstract: | Serotonin is a neurotransmitter involved in a large number of psychophysiological processes including the regulation of mood, arousal, aggression, sleep, learning, nociceptions, nerve growth and importantly, appetitive functions. Alterations of 5-HT receptor activity have been shown to occur in many psychiatric diseases including depression, anxiety, eating disorders, schizophrenia etc. Hence, genetic variation in genes coding for serotonin receptor proteins might well be involved in the genetic predisposition to these diseases and therefore are of great pharmacogenetic relevance. Knockout mice deficient of a functional 5-HT2C receptor have implicated a potential role of this receptor subtype in the serotonergic control of appetite. A Cys23Ser mutation in the human 5-HT2C receptor gene discovered recently prompted us to investigate this mutation with regard to the development of human obesity. We have evaluated this mutation in 241 obese children and adolescents (mean BMI ≥ 97th percentile), 80 normal weight children (BMI 5th – 85th percentile) and 92 underweight probands (BMI ≤ 15th percentile) for a possible association with obesity. The frequencies of the mutant allele in all three weight groups (obese subjects: 0.1597; normal weight: 0.168; underweight: 0.1575) were very similar. Association as well as linkage studies were negative. Therefore it is unlikely that this receptor mutation plays a direct role in the development of human obesity. |
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